Canonical Allele Identifier: CA1139667038

Gene: PCDH19

Linked Data

• ClinVar Variation Id: 971886
• ClinVar RCV Id: RCV001247771
• dbSNP Id: rs1928375176

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.100406958delinsTA , CM000685.2:g.100406958delinsTA	GRCh38
NC_000023.10:g.99661956delinsTA , CM000685.1:g.99661956delinsTA	GRCh37
NC_000023.9:g.99548612delinsTA	NCBI36
NG_021319.1:g.8316delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255531.8:c.1640delinsTA	ENSP00000255531.7:p.Ala547ValfsTer24
ENST00000373034.8:c.1640delinsTA MANE Select	ENSP00000362125.4:p.Ala547ValfsTer24
ENST00000420881.6:c.1640delinsTA	ENSP00000400327.2:p.Ala547ValfsTer24
NM_001105243.1:c.1640delinsTA	NP_001098713.1:p.Ala547ValfsTer24
NM_001184880.1:c.1640delinsTA	NP_001171809.1:p.Ala547ValfsTer24
NM_020766.2:c.1640delinsTA	NP_065817.2:p.Ala547ValfsTer24
XM_011530997.1:c.1640delinsTA	XP_011529299.1:p.Ala547ValfsTer24
XM_011530997.2:c.1640delinsTA	XP_011529299.1:p.Ala547ValfsTer24
NM_001105243.2:c.1640delinsTA	NP_001098713.1:p.Ala547ValfsTer24
NM_001184880.2:c.1640delinsTA MANE Select	NP_001171809.1:p.Ala547ValfsTer24
NM_020766.3:c.1640delinsTA	NP_065817.2:p.Ala547ValfsTer24